Clinical trials: Congenital Blindness
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
Type 1 Diabetes, Diabetes Insipidus
Tracking Neurodegeneration in Early Wolfram Syndrome
The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive…
- Conditions
- Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
- Trial name
- TRACK (NCT02455414)
- Where
- United States
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this study is to evaluate the safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- Stellar (NCT03780257)
- Testing
- QR-421a
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 20 people
- Sponsor
- ProQR Therapeutics
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Retinitis Pigmentosa
Study of Usher Syndromes, Type 1 and Type 2
The purpose of this investigation is to gain additional knowledge about what causes type 1 and type 2 Usher syndrome-inherited diseases that can cause balance problems and impaired hearing and vision-and to develop better…
- Trial name
- NCT00001347
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Eye Institute (NEI)
Retinopathy of Prematurity (ROP), Prematurity Complications
Retinopathy of Prematurity - Visual Function and Retinal Structure
Children born prematurely may develop a characteristic retinal disease named retinopathy of prematurity (ROP). This disease could lead to retinal detachment and blindness.
- Conditions
- Retinopathy of Prematurity (ROP), Prematurity Complications, Cerebral Visual Impairment, Visual Field Defect
- Trial name
- NCT07427719
- Where
- Norway
- Volunteers
- 140 people
- Sponsor
- Oslo University Hospital
Leber Congenital Amaurosis
Safety Study in Subjects With Leber Congenital Amaurosis
The purpose of this study is to determine whether gene transfer will be safe and effective in the treatment of Leber Congenital Amaurosis (LCA).
- Trial name
- NCT00516477
- Testing
- voretigene neparvovec-rzyl
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Spark Therapeutics, Inc.
Usher Syndrome, Type 1B
Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
The purpose of the 081-101 study is to evaluate the safety and tolerability of a single subretinal injection of AAVB-081 in USH1B patients with retinitis pigmentosa due to a mutation in the MYO7A gene.
- Trial name
- NCT06591793
- Testing
- AAVB-081
- Where
- 3 sites in Italy, United Kingdom
- Volunteers
- 15 people
- Sponsor
- AAVantgarde Bio Srl
Retinitis Pigmentosa (RP), Usher Syndrome
Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
Retinitis pigmentosa and similar degenerative diseases of the retina lead to progressive loss of vision. TES therapy with the CE-marked OkuStim® System is a treatment approved in the EU for slowing the progression of the disease.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome, Cone Rod Dystrophy
- Trial name
- TES-STEP (NCT07548944)
- Testing
- Transcorneal Electrical Stimulation using the OkuStim System
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Okuvision GmbH
Retinitis Pigmentosa, Leber Congenital Amaurosis
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101).
- Trial name
- NCT05203939
- Testing
- OCU400 Low Dose, OCU400 Med Dose, OCU400 High Dose
- Where
- 7 sites in United States
- Volunteers
- 22 people
- Sponsor
- Ocugen
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Retinal Disease, Age-Related Macular Degeneration
Stem Cell Ophthalmology Treatment Study II
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
- Conditions
- Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease
- Trial name
- SCOTS2 (NCT03011541)
- Testing
- Arm 1
- Where
- 4 sites in United States, Austria and 1 more
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
CHARGE Syndrome
A Strategic Approach to Safe and Effective Cochlear Implantation in Patients With CHARGE Syndrome
This retrospective observational study aims to evaluate cochlear anatomy, surgical challenges, and strategic approaches for safe cochlear implantation in pediatric patients with CHARGE syndrome.
- Trial name
- NCT07320482
- Testing
- No intervention (observational study)
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Seoul National University Bundang Hospital
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05158296
- Testing
- Ultevursen
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 7 people
- Sponsor
- Laboratoires Thea
Diabetes Mellitus Associated With Genetic Syndrome, Wolfram Syndrome
GLP Analogs for Diabetes in Wolfram Syndrome Patients
Wolfram syndrome, also referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a genetic syndrome characterized by beta-cell dysfunction and apoptosis leading to diabetes, neurodegeneration…
- Trial name
- NCT01302327
- Testing
- Exenatide
- Sponsor
- Hadassah Medical Organization
Visual Disorder, Young Adult
The Effect of Social Skills Training in Visually Impaired Adolescents
The aim of our study is to examine the effects of eight sessions of online social skills training given to visually impaired adolescents on social skills, self-efficacy, social phobia and social integration.
- Conditions
- Visual Disorder, Young Adult, Blindness, Blindness and Low Vision
- Trial name
- NCT05608811
- Testing
- Social Skills Training
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Saglik Bilimleri Universitesi
Retinitis Pigmentosa
Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients Having Degenerated Photo-receptors
The outcome of this trial will reveal the possibilities of the retinal implant to improve the situation of patients with hereditary retinal blindness caused by degenerations of the outer retina.
- Trial name
- NCT00515814
- Testing
- Retina implant is surgically placed into subretinal position
- Where
- 2 sites in Germany
- Volunteers
- 15 people
- Sponsor
- Retina Implant AG
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Choroideremia
Gene Therapy for Blindness Caused by Choroideremia
Primary objective: To assess the safety and tolerability of the AAV.REP1 vector, administered at two different doses to the retina in 12 patients with a diagnosis of choroideremia.
- Trial name
- NCT01461213
- Testing
- rAAV2.REP1
- Where
- 4 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- University of Oxford